Concepedia

Central Core Disease

Central Core Disease is a rare congenital myopathy characterized by well-defined central cores devoid of mitochondrial activity and oxidative enzyme staining within muscle fibers, distinguished from other muscular disorders by its autosomal dominant inheritance and association with mutations in the ryanodine receptor 1 (RYR1) gene.

190

Publications

12.7K

Citations

871

Authors

356

Institutions

Publications per year

2017–2026

12

Variants

Ccd

Parents

Publications

190

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

Natascia Tiso · Human Molecular Genetics · 2001 · 806 citations · Full text

, , +17

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

Kathleen A. Quane, Jasmine Healy, Katherine E. Keating et al. · Nature Genetics · 1993 · 354 citations

, , +11

A mutation in the human ryanodine receptor gene associated with central core disease

Yilin Zhang, Hai Shiene Chen, Vijay K. Khanna et al. · Nature Genetics · 1993 · 328 citations

, , +10

Caffeine and Halothane Sensitivity of Intracellular Ca2+ Release Is Altered by 15 Calcium Release Channel (Ryanodine Receptor) Mutations Associated with Malignant Hyperthermia and/or Central Core Disease

Jiefei Tong, Hideto Oyamada, Nicolas Demaurex et al. · Journal of Biological Chemistry · 1997 · 251 citations · Full text

, , +17

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca <sup>2+</sup> release channel function and severe central core disease

Patrick J. Lynch, Jiefei Tong, M Lehane et al. · Proceedings of the National Academy of Sciences · 1999 · 234 citations

, , +17

1–5 of 190

Authors

871

  1. DH
    David H. MacLennan

    University of Toronto, Canada

    18 publications · 1.8K citations

    17

    h-index

  2. NM
    Nicole Monnier

    Centre Hospitalier Universitaire de Grenoble, France

    14 publications · 1.2K citations

    14

    h-index

  3. RT
    Robert T. Dirksen

    University of Rochester, United States

    12 publications · 839 citations

    12

    h-index

  4. NB
    Norma B. Romero

    Inserm, France

    11 publications · 668 citations

    11

    h-index

  5. JL
    Joël Lunardi

    Inserm, France

    10 publications · 662 citations

    10

    h-index

1–5 of 871

Institutions

356

  1. University of Toronto

    Toronto, Canada

    18 h-index

    95 publications

    9.7K citations

  2. Institut de Myologie

    Paris, France

    14 h-index

    54 publications

    3.7K citations

  3. Inserm

    Paris, France

    13 h-index

    75 publications

    4.3K citations

  4. Centre Hospitalier Universitaire de Grenoble

    Grenoble, France

    11 h-index

    27 publications

    1.3K citations

  5. University of Würzburg

    Würzburg, Germany

    9 h-index

    15 publications

    1.9K citations

  6. Sorbonne Université

    Paris, France

    9 h-index

    47 publications

    2.6K citations

  7. University of Rochester

    Rochester, United States

    8 h-index

    20 publications

    1.4K citations

  8. Hammersmith Hospital

    London, United Kingdom

    8 h-index

    59 publications

    7.7K citations

1–8 of 356

Venues

  1. Neurology

    11 publications · 876 citations

    11

    h-index

  2. Muscle & Nerve

    11 publications · 390 citations

    11

    h-index

  3. Human Molecular Genetics

    11 publications · 1.8K citations

    11

    h-index

  4. Neuromuscular Disorders

    10 publications · 523 citations

    10

    h-index

  5. PubMed

    Repository · 10 publications · 271 citations

    10

    h-index

1–5